Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 219

1.

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy.

Lostal W, Bartoli M, Roudaut C, Bourg N, Krahn M, Pryadkina M, Borel P, Suel L, Roche JA, Stockholm D, Bloch RJ, Levy N, Bashir R, Richard I.

PLoS One. 2012;7(5):e38036. doi: 10.1371/journal.pone.0038036. Epub 2012 May 29.

2.

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.

Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaïb A, Miyake K, Guerchet N, Fougerousse F, McNeil P, Richard I.

Hum Mol Genet. 2010 May 15;19(10):1897-907. doi: 10.1093/hmg/ddq065. Epub 2010 Feb 13.

PMID:
20154340
3.

Defective membrane repair in dysferlin-deficient muscular dystrophy.

Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP.

Nature. 2003 May 8;423(6936):168-72.

PMID:
12736685
4.

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, Lévy N.

Sci Transl Med. 2010 Sep 22;2(50):50ra69. doi: 10.1126/scitranslmed.3000951.

5.

The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.

Monjaret F, Suel-Petat L, Bourg-Alibert N, Vihola A, Marchand S, Roudaut C, Gicquel E, Udd B, Richard I, Charton K.

Hum Gene Ther Clin Dev. 2013 Jun;24(2):65-76. doi: 10.1089/humc.2012.217. Epub 2013 May 30.

PMID:
23721401
6.

Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.

Ho M, Post CM, Donahue LR, Lidov HG, Bronson RT, Goolsby H, Watkins SC, Cox GA, Brown RH Jr.

Hum Mol Genet. 2004 Sep 15;13(18):1999-2010. Epub 2004 Jul 14.

PMID:
15254015
7.

Expression of myoferlin in skeletal muscles of patients with dysferlinopathy.

Inoue M, Wakayama Y, Kojima H, Shibuya S, Jimi T, Oniki H, Nishino I, Nonaka I.

Tohoku J Exp Med. 2006 Jun;209(2):109-16.

8.

Dysferlin and the plasma membrane repair in muscular dystrophy.

Bansal D, Campbell KP.

Trends Cell Biol. 2004 Apr;14(4):206-13. Review.

PMID:
15066638
9.

Translational research and therapeutic perspectives in dysferlinopathies.

Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M.

Mol Med. 2011 Sep-Oct;17(9-10):875-82. doi: 10.2119/molmed.2011.00084. Epub 2011 May 6. Review.

10.

Myoferlin, a candidate gene and potential modifier of muscular dystrophy.

Davis DB, Delmonte AJ, Ly CT, McNally EM.

Hum Mol Genet. 2000 Jan 22;9(2):217-26.

PMID:
10607832
11.

Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.

Piccolo F, Moore SA, Ford GC, Campbell KP.

Ann Neurol. 2000 Dec;48(6):902-12.

PMID:
11117547
12.

Lipid accumulation in dysferlin-deficient muscles.

Grounds MD, Terrill JR, Radley-Crabb HG, Robertson T, Papadimitriou J, Spuler S, Shavlakadze T.

Am J Pathol. 2014 Jun;184(6):1668-76. doi: 10.1016/j.ajpath.2014.02.005. Epub 2014 Mar 29.

PMID:
24685690
13.

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R.

Traffic. 2007 Jan;8(1):77-88. Epub 2006 Nov 21.

14.

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.

Cárdenas AM, González-Jamett AM, Cea LA, Bevilacqua JA, Caviedes P.

Exp Neurol. 2016 Sep;283(Pt A):246-54. doi: 10.1016/j.expneurol.2016.06.026. Epub 2016 Jun 25. Review.

PMID:
27349407
15.

Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin.

McDade JR, Michele DE.

Hum Mol Genet. 2014 Apr 1;23(7):1677-86. doi: 10.1093/hmg/ddt557. Epub 2013 Nov 7.

16.

Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule membrane.

Kerr JP, Ziman AP, Mueller AL, Muriel JM, Kleinhans-Welte E, Gumerson JD, Vogel SS, Ward CW, Roche JA, Bloch RJ.

Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):20831-6. doi: 10.1073/pnas.1307960110. Epub 2013 Dec 3.

17.

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.

Clin Neurol Neurosurg. 2013 Aug;115(8):1234-7. doi: 10.1016/j.clineuro.2012.11.010. Epub 2012 Dec 14.

PMID:
23254335
18.

Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature.

Gal A, Siska E, Nagy Z, Karpati G, Molnar MJ.

Clin Neuropathol. 2008 Sep-Oct;27(5):289-94.

PMID:
18808059
19.

Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.

Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S, Okamoto H, Nishino I, Hayashi YK.

J Neuropathol Exp Neurol. 2005 Apr;64(4):334-40.

PMID:
15835269
20.

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.

Klinge L, Harris J, Sewry C, Charlton R, Anderson L, Laval S, Chiu YH, Hornsey M, Straub V, Barresi R, Lochmüller H, Bushby K.

Muscle Nerve. 2010 Feb;41(2):166-73. doi: 10.1002/mus.21166.

PMID:
20082313

Supplemental Content

Support Center